Canonical Allele Identifier: CA384900601

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309100T>G (hg19) ; chr12:g.51915316T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915316T>G , CM000674.2:g.51915316T>G	GRCh38
NC_000012.11:g.52309100T>G , CM000674.1:g.52309100T>G	GRCh37
NC_000012.10:g.50595367T>G	NCBI36
NG_009549.1:g.12899T>G , LRG_543:g.12899T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.594T>G	ENSP00000446724.2:p.Phe198Leu
ENST00000551576.6:c.864T>G	ENSP00000455848.2:p.Phe288Leu
ENST00000552678.2:c.864T>G	ENSP00000457394.2:p.Phe288Leu
ENST00000388922.9:c.864T>G MANE Select	ENSP00000373574.4:p.Phe288Leu
ENST00000388922.8:c.864T>G	ENSP00000373574.4:p.Phe288Leu
ENST00000419526.6:c.342T>G	ENSP00000392492.2:p.Phe114Leu
ENST00000550683.5:c.906T>G	ENSP00000447884.1:p.Phe302Leu
NM_000020.2:c.864T>G , LRG_543t1:c.864T>G	NP_000011.2:p.Phe288Leu
NM_001077401.1:c.864T>G	NP_001070869.1:p.Phe288Leu
XM_005269235.2:c.864T>G	XP_005269292.1:p.Phe288Leu
XM_011539008.1:c.594T>G	XP_011537310.1:p.Phe198Leu
XM_024449279.1:c.75T>G	XP_024305047.1:p.Phe25Leu
NM_000020.3:c.864T>G MANE Select	NP_000011.2:p.Phe288Leu
NM_001077401.2:c.864T>G	NP_001070869.1:p.Phe288Leu